Understanding how DDX3X mutations affect brain development in autism
Cellular and molecular mechanisms underlying DDX3X syndrome
This study is looking at how changes in a gene called DDX3X might affect brain development in people with autism, using mice and human brain cells to learn more about how these changes can lead to developmental delays, with the hope of finding new ways to help.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project ID | NIH-10999418 on NIH RePORTER |
What this research studies
This research investigates the role of DDX3X mutations in autism spectrum disorder (ASD), particularly focusing on how these mutations disrupt brain development and protein synthesis. By using mouse models and human neural progenitor cells, the study aims to uncover the cellular and molecular mechanisms that lead to developmental delays associated with DDX3X mutations. The researchers will explore how these mutations affect the cell cycle and the translation of important proteins, which could provide insights into potential therapeutic interventions for ASD. Overall, the research seeks to fill critical gaps in our understanding of DDX3X's function in the developing brain.
Who could benefit from this research
Good fit: Ideal candidates for this research are females with autism spectrum disorder who have been identified with DDX3X mutations.
Not a fit: Patients without DDX3X mutations or those with other genetic causes of autism may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for individuals with autism spectrum disorder linked to DDX3X mutations.
How similar studies have performed: Previous research has shown promising results in understanding the genetic basis of autism, making this approach both relevant and potentially impactful.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: Silver, Debra — Duke University
- Study coordinator: Silver, Debra
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.